International Journal of Legal Medicine

, Volume 119, Issue 1, pp 50–53

Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy

  • Ukhee Chung
  • Hwan Young Lee
  • Ji-Eun Yoo
  • Myung Jin Park
  • Kyoung-Jin Shin
Short Communication


The mitochondrial DNA HV3 region contains CA dinucleotide repeats which display length polymorphism. To analyze this for forensic purposes, we designed a fluorescence-labelled PCR primer set for short amplification products and carried out genotyping by using capillary electrophoresis. A total of 4 alleles with 4–7 repeat units were observed and the genetic diversity was estimated to be 0.5120 in 500 unrelated Koreans. Interestingly, three individuals showed two or three length variants, i.e. length heteroplasmy.


Mitochondrial DNA CA dinucleotide repeats Length polymorphism Length heteroplasmy Koreans 


  1. 1.
    Anderson S, Bankier AT, Barrell BG et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465PubMedGoogle Scholar
  2. 2.
    Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31–36CrossRefPubMedGoogle Scholar
  3. 3.
    Holland MM, Parsons TJ (1999) Mitochondrial DNA sequence analysis—validation and use for forensic casework. Forensic Sci Rev 11:21–50Google Scholar
  4. 4.
    Gill P, Ivanov PL, Kimpton C et al. (1994) Identification of the remains of the Romanov family by DNA analysis. Nat Genet 6:130–135PubMedGoogle Scholar
  5. 5.
    Wilson MR, DiZinno JA, Polanskey D, Replogle J, Budowle B (1995) Validation of mitochondrial DNA sequencing for forensic casework analysis. Int J Legal Med 108:68–74PubMedGoogle Scholar
  6. 6.
    Lutz S, Weisser HJ, Heizmann J, Pollak S (1998) Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany. Int J Legal Med 111:67–77, Erratum in Int J Legal Med (1998) 111:286, Int J Legal Med (1999) 112:145–150Google Scholar
  7. 7.
    Lee SD, Lee YS, Lee JB (2002) Polymorphism in the mitochondrial cytochrome B gene in Koreans. An additional marker for individual identification. Int J Legal Med 116:74–78CrossRefPubMedGoogle Scholar
  8. 8.
    Vanecek T, Vorel F, Sip M (2004) Mitochondrial DNA D-loop hypervariable regions: Czech population data. Int J Legal Med 118:14–18CrossRefPubMedGoogle Scholar
  9. 9.
    Pereira L, Cunha C, Amorim A (2004) Predicting sampling saturation of mtDNA haplotypes: an application to an enlarged Portuguese database. Int J Legal Med 118:132–136CrossRefPubMedGoogle Scholar
  10. 10.
    Coble MD, Just RS, O’Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med 118:137–146CrossRefPubMedGoogle Scholar
  11. 11.
    Szibor R, Michael M, Spitsyn VA, Plate I, Ginter EK, Krause D (1997) Mitochondrial D-loop 3’ (CA)n repeat polymorphism: optimization of analysis and population data. Electrophoresis 18:2857–2860PubMedGoogle Scholar
  12. 12.
    Lutz S, Weisser HJ, Heizmann J, Pollak S (1997) A third hypervariable region in the human mitochondrial D-loop. Hum Genet 101:384PubMedGoogle Scholar
  13. 13.
    Lutz S, Wittig H, Weisser HJ et al. (2000) Is it possible to differentiate mtDNA by means of HVIII in samples that cannot be distinguished by sequencing the HVI and HVII regions? Forensic Sci Int 113:97–101CrossRefPubMedGoogle Scholar
  14. 14.
    Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585–595PubMedGoogle Scholar
  15. 15.
    Brandstatter A, Niederstatter H, Parson W (2004) Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region. Int J Legal Med 118:47–54CrossRefPubMedGoogle Scholar
  16. 16.
    Pfeiffer H, Lutz-Bonengel S, Pollak S, Fimmers R, Baur MP, Brinkmann B (2004) Mitochondrial DNA control region diversity in hairs and body fluids of monozygotic triplets. Int J Legal Med 118:71–74CrossRefPubMedGoogle Scholar
  17. 17.
    Lutz-Bonengel S, Sanger T, Pollak S, Szibor R (2004) Different methods to determine length heteroplasmy within the mitochondrial control region. Int J Legal Med DOI:10.1007/s00414-004-0457-0Google Scholar
  18. 18.
    Lee HY, Chung U, Yoo JE, Park MJ, Shin KJ (2004) Quantitative and qualitative profiling of mitochondrial DNA length heteroplasmy. Electrophoresis 25:28–34CrossRefPubMedGoogle Scholar
  19. 19.
    Shinde D, Lai Y, Sun F, Arnheim N (2003) Taq DNA polymerase slippage mutation rates measured by PCR and quasi-likelihood analysis: (CA/GT)n and (A/T)n microsatellites. Nucleic Acids Res 31:974–980CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Ukhee Chung
    • 1
    • 2
  • Hwan Young Lee
    • 1
  • Ji-Eun Yoo
    • 1
  • Myung Jin Park
    • 1
  • Kyoung-Jin Shin
    • 1
    • 2
    • 3
  1. 1.Department of Forensic Medicine and Brain Korea 21 Project for Medical ScienceCollege of Medicine Yonsei UniversitySeoul Korea
  2. 2.Biometrics Engineering Research CenterYonsei UniversitySeoulKorea
  3. 3.Human Identification Research InstituteYonsei UniversitySeoul Korea

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